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Global Collaboration Needed to Translate Genetic Research Findings to Improve Care For Premature Babies

WHITE PLAINS, N.Y., JANUARY 30, 2006 – Although the Human Genome Project has identified thousands of genes crucial to understanding the risks for many common human diseases -- such as premature birth, leukemia, and Parkinson's disease -- global cooperation is still urgently needed to catalogue and use the information.

"It is important to be part of the rapidly evolving big picture," said Siobhan Dolan, March of Dimes associate medical director and co-author of a commentary published in the January issue of Nature Genetics, that called for collaboration among international researchers and the creation of an online knowledge base cataloging published and unpublished research findings.

Dr. Dolan participated in a conference in October in Cambridge, England where the researchers leading disease-specific networks met to share best practices, tools, and methods for analysis of associations between genetic variation and common diseases.

The Human Genome Epidemiology Network (HuGENet) and the Network of Investigator Networks have proposed a road map to integrate the findings of the human genome project into clinical and public health practice. Pilot projects are underway, to summarize the current scientific evidence on the genetic contribution to complex disorders such as prematurity, osteoporosis, Parkinson's disease and acute leukemia.

Prematurity is a common, serious, and costly problem in the United States, and the leading killer of newborns. More than a half million babies were born prematurely (less than 37 weeks completed gestation) last year – or 1 in every 8 babies born.

"Preterm birth is a public health problem affecting millions of infants in the U.S. and worldwide. Advances in human genomics are providing exciting opportunities to understand the role of genetic factors and their interaction with the environmental factors in predicting and preventing preterm birth and other complex disorders," said co-author Muin J. Khoury, MD, PhD, Director of the Office of Genomics and Disease Prevention at the Centers for Disease Control and Prevention. "The March of Dimes is an integral part of this global collaboration and will participate in pilot efforts that will examine the evidence for gene-environment interactions in premature birth, leukemia and Parkinson's disease."

One challenge is to ensure the credibility of the data when there is no standardization, the authors wrote. There must be common and widely agreed upon rules that include the magnitude and significance of the findings, and whether they can be replicated before they are included.

"The plan tries to maximize global collaboration, high scientific standards, transparency so that this data can be reliably used to improve health," said co-author John Ioannidi, University of Ioannina School of Medicine and Biomedical Research Institute, Greece.

HuGENet has created a database of published research, but unpublished studies, many of which report negative findings, need to be included. It is just as important to understand what a gene does not control, the authors argue.

"We believe that international collaboration along with rigorous scientific methods will allow us to use the findings of the human genome project to their fullest to improve our understanding of prematurity and birth defects," said Dr. Dolan.

"Roadmap for Developing an Efficient and Credible Risk Engine for Large-Scale Human Genome Epidemiology," appeared in the January issue of Nature Genetics, volume 38, number 1.




 
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